Inherited bleeding disorders
Gene: MTHFR
MTHFR (methylenetetrahydrofolate reductase)
EnsemblGeneIds (GRCh38): ENSG00000177000
EnsemblGeneIds (GRCh37): ENSG00000177000
OMIM: 607093, Gene2Phenotype
MTHFR is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000177000
EnsemblGeneIds (GRCh37): ENSG00000177000
OMIM: 607093, Gene2Phenotype
MTHFR is in 13 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Thromboembolism, susceptibility to 188050
- OMIM
- 607093
- Clinvar variants
- Variants in MTHFR
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Adult onset leukodystrophy
- Pneumothorax - familial
- Likely inborn error of metabolism
- Familial Meniere Disease
- Familial Neural Tube Defects
- Undiagnosed metabolic disorders
- DDG2P
- Cerebral folate deficiency
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Inherited bleeding disorders
- Early onset or syndromic epilepsy
History Filter Activity
19 Dec 2016, Gel status: 1
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Revised 19 December 2016
19 Dec 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)MTHFR was added to Inherited bleeding disorderspanel. Sources: Radboud University Medical Center, Nijmegen
19 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)MTHFR was created by ellenmcdonagh